A paternal inherited duplication encompassing the region 16p13.11 is present in the female proband AB35, with ASD, and mild cognitive impairment, without dysmorphic features, which overlaps with the likely core pathogenic region at the 16p13.11 locus (interval II) and includes the NDE1 gene, which is the major candidate gene for the neurodevelopmental phenotypes associated with the 16p13.11 CNVs18. The gene discussed is NDE1; the disease is Cognitive impairment.